AATPH / 095653L

Test Code AATPH / 095653L 
Methodology Total: Immunologic
Phenotype: Isoelectric focusing (IEF) 
Description Useful for the definitive analysis of hereditary alpha-1-antitrypsin deficiency, which is associated with chronic obstructive pulmonary disease, hepatic cirrhosis hepatoma. Cholestasis with neonatal hepatitis is found in a minority of neonates with alpha-1-antitrypsin deficiency. 
Specimen Draw blood in a plain, red-top tube (or serum gel tube), from a patient who has been fasting overnight. Spin down and send 2.0 mL (minimum volume: 0.7 mL) serum in a refrigerated screw-capped plastic vial. Avoid hemolysis. 
Reference Values Interpretation accompanies report; phenotypes are designated. PiMM phenotype is normal; PiMZ is heterozygous, intermediate deficient; and PiZZ is homozygous, severely deficient. More than 75 alleles are described; biosynthesis of a1AT is controlled at the Pi locus by a pair of genes. There is codominant expression. The phenotype is “Pi” for protease inhibitor. Z and S are mutant proteins. A null-null state occurs as well. In the dysfunctional type, a1AT is found in normal amounts but does not function normally. 
Analytic Time 1 Day 
Day(s) Test Set Up Monday through Friday 
CPT Code(s) 82103  Alpha-1-antitrypsin, total
82104  Alpha-1-antitrypsin, pheno